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GENE - TERM ANNOTATION REPORT

RGD ID: 1604786
Species: Homo sapiens
RGD Object: Gene
Symbol: CEP290
Name: centrosomal protein 290
Acc ID: DOID:557
Term: kidney disease
Definition: A urinary system disease that is located_in the kidney. (DO)
Definition Source(s): http://www.nlm.nih.gov/medlineplus/kidneydiseases.html "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CEP290 IAGP 329901759RGDassociated with Joubert syndrome 5;DNA:nonsense mutations, frameshift mutations:CDS:multiple (human) 
CEP290 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney diseasePMID:25741868 PMID:28492532
CEP290 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kidney DiseasesPMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532 PMID:31970223 PMID:32856788 PMID:33502066 PMID:33574314 PMID:33970760
CEP290 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kidney diseasePMID:17564967 PMID:25741868 PMID:28492532
CEP290 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kidney diseasePMID:25741868 PMID:26467025 PMID:28492532
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